A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5549028



Internal ID322730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:149932224..149932224hg38UCSC Ensembl
chr5:149311787..149311787hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16974749
Samples
Known GenesPDE6A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5549028
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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